Mullerian anomalies , genetics of MDA.ppt

INTRODUCTION
 MDA are fascinating disorders to obstetricians and
gynaecologists
 MD forms tubes, uterus, cervix and upper part of
vagina
 Ranges from agenesis to duplication.
 Associated with renal and axial skeletal systems
anomalies
 Has varying presentation ranging from primary
amenorrhea to menstrual disorders, infertility and
pregnancy complications like BOH, PTL, Ectopic ,
etc
 MDA has varying treatment from ability to have
coitus to conceive and deliver normal babies.

INCIDENCE
 Dates back to 16th
century a case utero
vaginal agenesis
– Columbo et al (1600)
 General population – 0.1-3.5% - Byrene et al
 Fertile women – 4.3%
 Infertile women – 3.6%
 Sterile group - 2.4%
 Recurrent Aborters 5 - 13% - Grimbizis et al

ETIOLOGY
 Dysregulation occuring in differentiation,
migration, fusion and canalisation
 Associated with renal anomalies, axial skeletal
anomalies and rarely cardiac and auditory
anomalies
 Probable causes: Intrauterine infection , genetic
aberration, Teratogens like DES and
Thalidomide.

GENETICS OF MDA
 Sporadic
 Familial
 Multifactorial
 Autosomal dominant
 Autosomal recessive
 X linked
 Variants of GALT (Galactose 1 phosphate
uridyl transferase enzyme defect)
Genes Associated :- HOXA 9, 13 & WNT 4

Embryogenesis of the Reproductive
Tract

CLASSIFICATION OF MDA
 1979 – Buttram and Gibbons
classification
Modified
 1988 – American Fertility Society
classification

American Fertility Society Classification of Mullerian Anomalies

INCIDENCE OF MDA ACCORDING
TO AFS
 Arcuate uterus 32.8%
 Septate uterus 33.6%
 Bicornuate uterus 20.0%
 DES exposed uterus 0.8%
 Unicornuate
 Uterine didelphys 33%

EFFECT OF MDA UPON REPRODUCTION
 Infertility
 Endometriosis
 Ectopic pregnancy
 Recurrent Pregnancy Loss
 Prematurity , IUGR , fetal malposition
 Uterine dysfunction
 Uterine rupture
 Increased perinatal morbidity and mortality

DIAGNOSIS OF MDA
 Clinical
 Hystero salphingogram
 Sonosalphingogram
 MRI – 100% accuracy
 Hystero laparoscopy
 Laparotomy or LSCS

Vulvar Abnormalities
Vulval and lower 1/3rd
vagina atresia
Labial Fusion
 Most commonly due to congenital adrenal
hyperplasia.
Imperforate hymen
 Persistence of the fusion between the sinovaginal
bulbs at the vestibule
 Associated with primary amenorrhea and
hematocolpos

Vaginal Abnormalities
Developmental abnormalities of the normal
single vagina include:
 Vaginal agenesis
 Vaginal atresia
 Double vagina
 Longitudinal vaginal septum
 Transverse vaginal septum

Obstetrical significance of vaginal
abnormalities
 Complete mullerian agenesis – pregnancy is impossible
because uterus and vagina is absent
 About one third of women with vaginal atresia have
associated urological abnormalities
 Complete vaginal atresia – precludes intercourse and
then pregnancy
 In most cases of partial atresia, because of pregnancy-
induced tissue softening, obstruction during labor is
gradually overcome. interferes with descent

Obstetrical significance of vaginal
abnormalities
 Complete longitudinal vaginal septum usually
does not cause dystocia because half of the
vagina through which the fetus descends dilates
satisfactorily.
 Incomplete septum, however, occasionally
interferes with descent.

Cervical Abnormalities
Atresia.
 This may be combined with incomplete development of the upper vagina or lower
uterus
Double cervix.
 Each distinct cervix results from separate müllerian duct maturation.
 Both septate and true double cervices are frequently associated with a longitudinal
vaginal septum.
 Many septate cervices are erroneously classified as double.
Single hemicervix.
 This arises from unilateral müllerian maturation.
Septate cervix.
 This consists of a single muscular ring partitioned by a septum.
 The septum may be confined to the cervix, or more often, it may be the downward
continuation of a uterine septum or the upward extension of a vaginal septum.

CLASS I- ROKITANSTY SYNDROME
 Primary amenorrhea
 Feminine patients
 Short vagina
DD: Testicular feminization syndrome

INVESTIGATIONS
 Karyotyping
 USG/MRI
 Hormone assay
 IVP (associated vertebral anomalies can
be detected) and renal sonography
 Diagnostic Laparoscopy is not routinely
done.

TREATMENT
 Vaginal Reconstruction
– Vagino plasty : Mac Indoes Vaginoplasty;
Williams vulvovaginoplasty, Vecchietti
procedure
 Fertility – by surrogacy
 Psychological support

Unicornuate Uterus (Class II)
 Women with a unicornuate uterus have
an increased incidence of infertility,
endometriosis, and dysmenorrhea.
 Implantation in the normal-sized
hemiuterus is associated with increased
incidence of:
 spontaneous abortion
 preterm delivery
 intrauterine fetal demise

UNICORNUATE UTERUS
 Unilateral failure of development of MDA
Incidence: 2.5-13%
Types : Unicornuate
Unicornuate with rudimentary horn
-Communicating
-Non communicating
- with endometrium
-without
endometrium
Associated Renal anomalies like renal agenesis,
Horseshoe kidney and pelvic kidney44% (In the
presence of obstructed horn)

CLINICAL FEATURES
 Haematometra
 Endometriosis
 Preterm labour – 43%
 IUGR
 Mal presentation
 Ectopic -4.3%
 Pregnancy in accessory horn -2%
 Rupture uterus

IMAGING MODALITIES IN
UNICORNUATE UTERUS
HSG 3D USG MRI

DIAGNOSIS AND SURGICAL
MANAGEMENT
 HSG – non communicating horn cannot be
diagnosed
 USG – 3D or High Resolution
 MRI – banana shaped uterus
 Laparoscopy – indicated for excision of
rudimentary horn which has endometrium
 IVU or renal sonography
Cervical encirclage is mandatory if patient
conceives

REPRODUCTIVE OUTCOME IN
UNICORNUATE UTERUS
 Live birthrate 43.7%
 Abortion rate 35-43%
 Preterm delivery 27%
 Term delivery 31%

NONCOMMUNICATING RUDIMENTARY UTERINE HORN
* attached fallopian tube (arrow) was patent*

UNICORNUATE UTERUS WITH
RUDIMENTARY HORN

Uterine Didelphys (Class III)
 This anomaly is distinguished from bicornuate
and septate uteri by the presence of complete
nonfusion of the cervix and hemiuterine cavity
 Except for ectopic and rudimentary horn
pregnancies, problems associated with uterine
didelphys are similar but less frequent than
those seen with unicornuate uterus
 Complications may include
- preterm delivery (20%)
- fetal growth restriction (10%)
- breech presentation (43%)
- cesarean delivery rate (82%)

DI DELPHYS
 Failure of midline fusion of MD either
completely or partially
 Incidence: 11%
 Types : Total Septum
Partial Septum
Transverse Septum

CLINICAL FEATURES
 Asymptomatic – Failure of tampons to obstruct
menstrual flow
 Hematometrocolpos if there is
 Hematometra obstruction
 Hematosalpinx 20% renal anomalies
 Endometriosis
 Other associated anomalies : bladder exstrophy ,
congenital VVF, cervical agenesis

DIDELPHYS UTERUS
HSG 3DUSG MRI

DIAGNOSIS &SURGICAL MANAGEMENT
 Clinical
 USG
 MRI- 2 widely separated uterine horns, 2
cervices are typical identified. Intercornual
angle >60 degree
 Laparoscopy
 IVP

SURGICAL MANAGEMENT
 With obstruction
- Excision of the horn
 Non obstruction
- Strassmann metroplasty only in selected
cases
Cervical encirclage is mandatory if patient
conceives

DI DELPHYS
 Term delivery 20%
 Ectopic 2.3%
 Abortion 20%
 Live birth 68%

Bicornuate and Septate Uteri
(Classes IV and V)
 Marked increase in miscarriages that is
likely due to the abundant muscle tissue in
the septum
 Pregnancy losses in the first 20 weeks
were reported by Buttram and Gibbons
 70 percent for bicornuate
 88 percent for septate uteri
 There also is an increased incidence of
preterm delivery, abnormal fetal lie, and
cesarean delivery.

BICORNUATE UTERUS
 Incomplete fusion of MD at uterine
fundus level
 Incidence - 20%
 May be complete - bicornuate bicollis
 May be incomplete - bicornuate unicollis

ULTRASOUND IMAGING OF SEPTATE
AND BICORNUATE UTERUS
Anna Lev-Toaff, MD , Thomas Jefferson University, PA

Clinical features
 Asymptomatic
 Abortion 28%
 Live birth 63%

BICORNUATE UTERUS
HSG 3D USG
MRI

DIAGNOSIS
 To be differentiated from septate uterus
 HSG
 USG during luteal phase shows 2 endometrial
cavities with a deep dimple in the fundus.
 MRI – Ideal
 Intercornual distance is >105 degrees
 Myometrial tissue is seen in bicornuate uterus Vs
septum in septate uterus with angle of <75
degree
 Laparoscopy

SURGICAL MANAGEMENT
 Metroplasty is reserved only in recurrent
aborters
 Strassmann procedure either by
Laparoscopy or Laparotomy

BICORNUATE UTERUS WITH
OBSTRUCTION IN ONE HORN

BICORNUATE UTERUS
 Increased incidence in infertile
population.
 Term pregnancy rate 60%
 Live birth 65%
 Metroplasty is indicated only when other
causes are ruled out.
Acien , 1993

SEPTATE UTERUS
 Incomplete resorption of medial septum
 Incidence : 33.6%
 Types: Complete
Incomplete
DD: Uterus didelphys
Renal tract anomalies are rare

CLINICAL FEATURES
 Dyspareunia
 Dysmenorrhoea
 Primary or secondary infertility
 Poor reproductive performance

SEPTATE UTERUS
HSG USG 3DUSG
MRI

SURGICAL MANAGEMENT
 Hysteroscopic Septal Resection under
Laparoscopic guidance using
microscissors, electro cautery, laser,
Versa point
 Stop dissecting
- When both cornuae are seen in the
same plane
- Appearance of vascularity
- Move the scope from one side to other

SEPTATE UTERUS
 Spontaneous abortion 33-75%
 Live birth 62%
 Term deliveries 51%
 Preterm labour 10%
 Ectopic 2%
Metroplasty increases the incidence of live
birth to 82%
Acien , 1993

POST OPERATIVE MANAGEMENT
 Estrogens may be used

COMPLICATION
 Uterine perforation
 Hemorrhage
 Cervical incompetence
 Residual septum

Class VI
Arcuate Uterus
 This malformation is only a mild
deviation from the normally developed
uterus.

ARCUATE UTERUS
 Near complete resorption of the
uterovaginal septum.
 Small intrauterine indentation shorter
than 1cm and located in the fundal
region diagnosed by HSG.
 Incidence : 32.8%

ARCUATE UTERUS
HSG 3D USG MRI

DIAGNOSIS & TREATMENT
 HSG
 MRI
 IVP and renal ultrasound
 Hysteroscopy
 Resection indicated in poor performers

ARCUATE UTERUS
 Preterm delivery 05.1%
 Live birth 66.2%
 Ectopics 03.6%
 Spontaneous abortion 20.0%

Diethylstilbestrol-Induced
Reproductive Tract Abnormalities
 Development of rare vaginal clear cell
adenocarcinoma.
 Increased risk of developing
 cervical intraepithelial neoplasia
 small-cell cervical carcinoma
 vaginal adenosis,
 non-neoplastic structural abnormalities

Structural Abnormalities:
 transverse septa,
 circumferential ridges involving the
vagina and cervix
 cervical collars
 smaller uterine cavities
 shortened upper uterine segments
 T-shaped and irregular
 oviduct abnormalities

 Their incidences of miscarriage,
ectopic pregnancy, and preterm
delivery are also increased, especially
in women with structural abnormalities

MANAGEMENT OF T SHAPED
UTERUS
 Lateral metroplasty
 Encerclage is mandatory in the event of
pregnancy

CONCLUSION
 MDA are not so uncommon
 Presents at varying stages of life as
primary amenorrhoea , infertility,
Recurrent abortion, preterm labour,
 MRI helps in accurate diagnosis
 DHL is indicated only when intervention
is needed.
 Corrective surgery improves pregnancy
outcome

DEVELOPMENT OF THE OVARY
- The primitive sex cords degenerate & become replaced by
vascular fibrous tissue which forms the permanent medulla.
- The epithelium of the celomic cavity proliferates & become
thicker. It forms columns of cells known as cortical cords.
- The cortical cords split into separate follicular cell clusters
surrounding germ cells & form together primordial follicles.

DEVELOPMENT OF THE DUCTS OF
THE GONADS
2 ducts are formed in male & female
embryos: mesonephric (Wolffian ) &
paramesonephric (Mullerian) duct.
In male embryo:
- Mullerian duct degenerate (except
the uppermost part which forms
appendix testis & lowermost part
which forms prostatic utricle).
Wolffian duct:
- Its upper part becomes markedly
convoluted forming the epididymis.
- The middle part forms the vas
deferens.
- The lower part forms a small pouch
which forms the seminal vesicle.
- The terminal part forms the
ejaculatory duct.
- (The upper most part of the duct forms
appendix epididymis).
- Mesonephric tubules opposite the
developing testis forms efferent ducts
which become connected to rete
testis.

Mullerian anomalies , genetics of MDA.ppt

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